rs80356556
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs80356556(C;C) |
Make rs80356556(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 83537002 |
Gene | VCAN, VCAN-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs80356556 |
dbSNP (classic) | rs80356556 |
ClinGen | rs80356556 |
ebi | rs80356556 |
HLI | rs80356556 |
Exac | rs80356556 |
Gnomad | rs80356556 |
Varsome | rs80356556 |
LitVar | rs80356556 |
Map | rs80356556 |
PheGenI | rs80356556 |
Biobank | rs80356556 |
1000 genomes | rs80356556 |
hgdp | rs80356556 |
ensembl | rs80356556 |
geneview | rs80356556 |
scholar | rs80356556 |
rs80356556 | |
pharmgkb | rs80356556 |
gwascentral | rs80356556 |
openSNP | rs80356556 |
23andMe | rs80356556 |
SNPshot | rs80356556 |
SNPdbe | rs80356556 |
MSV3d | rs80356556 |
GWAS Ctlg | rs80356556 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80356556(A;A) rs80356556(C;C) |
Alt | rs80356556(A;A) rs80356556(C;C) |
Reference | Rs80356556(T;T) |
Significance | Pathogenic |
Disease | Wagner syndrome |
Variation | info |
Gene | LOC105379054 VCAN |
CLNDBN | Wagner syndrome |
Reversed | 0 |
HGVS | NC_000005.9:g.82832821T>A; NC_000005.9:g.82832821T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000020592.4, RCV000020593.4, |
[PMID 16877430] Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.